ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
28 signs/symptoms

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Maffucci syndrome

PYGL	(UniProt - OMIM)		IDH1	(UniProt - OMIM)
			IDH2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PYGL	(0.63)	IDH2

Citations in the biomedical literature:

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Maffucci syndrome
	Synonym(s): - GSD due to liver glycogen phosphorylase deficiency - GSD type 6B - Glycogen storage disease type 6B - Glycogenosis due to liver glycogen phosphorylase deficiency - Glycogenosis type 6B - Hepatic glycogen phosphorylase deficiency - Hepatic phosphorylase deficiency - Hers disease - Liver glycogen phosphorylase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease		Classification (Orphanet): - Rare bone disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Short stature / dwarfism / nanism

Glycogen storage disease due to liver glycogen phosphorylase deficiency		Maffucci syndrome
	Very frequent - Autosomal recessive inheritance - Hypoglycemia - Storage liver disease		Very frequent - Bone tumefaction / swelling - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Enchondroses - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Vascular anomalies of skin / mucosae - Venous thrombosis / phlebitis / thrombophlebitis Frequent - Bone pain - Exostoses - Joint / articular deformation - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Acute palsy - Adrenal neoplasm / tumor / carcinoma / cancer - Bone / osseous neoplasm / tumor / carcinoma / cancer - Breast neoplasm / tumor / carcinoma / cancer - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Cranial nerves palsy - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Goiter - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Parathyroid neoplasm / tumor / carcinoma / cancer - Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sarcoma